Area of research
Sensory Systems · Genetics
Research interest
Research interests include Hearing, Cochlea, Tinnitus, Genetics, Genomics and Rare Diseases, Vestibular and auditory disorders, and Retinal Development and Disorders.
The genomic landscape of syndromic and non-syndromic hearing loss within the 100,000 Genomes Project cohort
Whole-genome sequencing of patients with rare diseases in a national health system
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Bayesian Inference Associates Rare <i>KDR</i> Variants With Specific Phenotypes in Pulmonary Arterial Hypertension
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Diverse Species-Specific Phenotypic Consequences of Loss of Function
<i>Sorting Nexin 14</i>
Mutations
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Clinical utility gene card for: Wolfram syndrome